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Autosomal dominant nonsyndromic hearing loss 27(DFNA27)

MedGen UID:
854637
Concept ID:
C3887929
Disease or Syndrome
Synonym: Deafness, autosomal dominant 27
 
Gene (location): REST (4q12)
 
Monarch Initiative: MONDO:0012902
OMIM®: 612431

Definition

DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss (Peters et al., 2008). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

Diagnosis

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article

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